(used for variant description)
(last modified October 22, 2016)
This file was created to facilitate the description of sequence variants on transcript NM_024928.4 in the OBFC1 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NC_000010.10, covering OBFC1 transcript NM_024928.4.
(upstream sequence)
. g.5010
aaatgcgctg c.-241
. . . . . . g.5070
gcggggagaccggggttggtccctggcggggcagggggcgggctcaggccggaactccag c.-181
. . . . . . g.5130
agacgacctcagccaactgctcctgcgccgggcggggtcgtcgccgccagcggctccgag c.-121
. . . . . . | 02 g.5633
cgccggaagggccaggtctcagggctcctggagctgcaggcggcgggaggggctacaa | at c.-61
. . . . . . g.5693
gcttgactcagtgatgcagaacctttcagagttagctggaagccacagccctgcctcttg c.-1
. . . . . . g.5753
ATGCAGCCTGGATCCAGCCGGTGTGAAGAGGAGACCCCTTCCCTCTTGTGGGGTTTGGAT c.60
M Q P G S S R C E E E T P S L L W G L D p.20
. . . . . . g.5813
CCTGTGTTTCTAGCCTTTGCAAAACTCTACATCAGGGATATCCTGGACATGAAGGAGTCC c.120
P V F L A F A K L Y I R D I L D M K E S p.40
. | 03 . . . . . g.12712
CGCCAGGTGCCAG | GTGTATTTTTGTACAATGGACATCCAATAAAACAGGTAGATGTCTTG c.180
R Q V P G | V F L Y N G H P I K Q V D V L p.60
. . . . | 04 . g.18142
GGAACTGTCATTGGAGTGAGAGAAAGAGATGCTTTCTACAGTTATGGAG | TGGATGACAGC c.240
G T V I G V R E R D A F Y S Y G V | D D S p.80
. . . . . | 05 . g.23069
ACTGGAGTTATAAACTGCATCTGCTGGAAAAAGTTGAATACTGAGTCTGTATCAG | CTGCT c.300
T G V I N C I C W K K L N T E S V S A | A p.100
. . . . . . g.23129
CCAAGTGCAGCAAGAGAGCTCAGCTTAACCTCACAACTTAAGAAGCTACAAGAGACCATT c.360
P S A A R E L S L T S Q L K K L Q E T I p.120
. . . . . . g.23189
GAGCAGAAAACAAAGATAGAGATCGGGGACACGATCCGAGTCAGAGGCAGTATCCGCACA c.420
E Q K T K I E I G D T I R V R G S I R T p.140
. . . | 06. . . g.24310
TACAGAGAAGAGCGAGAGATTCATGCCACCACTTACT | ATAAAGTGGACGACCCAGTGTGG c.480
Y R E E R E I H A T T Y Y | K V D D P V W p.160
. . . . . . g.24370
AACATTCAAATTGCAAGGATGCTTGAGCTGCCCACTATCTACAGGAAAGTTTATGACCAG c.540
N I Q I A R M L E L P T I Y R K V Y D Q p.180
. . . . | 07 . . g.25587
CCTTTTCACAGCTCAGCCCTAGAGAAAGAAGAGGCACTAAG | CAATCCAGGCGCCCTGGAC c.600
P F H S S A L E K E E A L S | N P G A L D p.200
. . . . . . g.25647
CTCCCCAGTCTCACGAGTTTGCTGAGTGAAAAAGCCAAAGAATTCCTCATGGAGAACAGA c.660
L P S L T S L L S E K A K E F L M E N R p.220
. . . . . . g.25707
GTGCAGAGCTTTTACCAGCAGGAGCTGGAAATGGTGGAGTCTTTGCTGTCCCTTGCCAAT c.720
V Q S F Y Q Q E L E M V E S L L S L A N p.240
. . . | 08 . . . g.31062
CAGCCTGTGATTCACAGTGCCTCCTCCGACCAA | GTGAATTTTAAGAAGGACACCACTTCC c.780
Q P V I H S A S S D Q | V N F K K D T T S p.260
. . . . . . g.31122
AAGGCAATTCATAGTATATTTAAGAATGCTATACAACTGCTGCAGGAAAAAGGACTTGTT c.840
K A I H S I F K N A I Q L L Q E K G L V p.280
. . . | 09 . . . g.34167
TTCCAGAAAGATGATGGTTTTGATAACCTATACTAT | GTAACCAGAGAAGACAAAGACCTG c.900
F Q K D D G F D N L Y Y | V T R E D K D L p.300
. . . . | 10 . g.40457
CACAGAAAGATCCACCGGATCATTCAGCAGGACTGCCAGAAACCAAATC | ACATGGAGAAG c.960
H R K I H R I I Q Q D C Q K P N H | M E K p.320
. . . . . . g.40517
GGCTGTCACTTCCTGCACATCTTGGCCTGTGCTCGCCTGAGCATCCGCCCGGGCCTGAGC c.1020
G C H F L H I L A C A R L S I R P G L S p.340
. . . . . . g.40577
GAGGCTGTGCTGCAGCAAGTTCTGGAGCTCCTGGAGGACCAGAGTGACATTGTCAGCACA c.1080
E A V L Q Q V L E L L E D Q S D I V S T p.360
. . g.40604
ATGGAGCACTACTACACAGCGTTCTGA c.1107
M E H Y Y T A F X p.368
. . . . . . g.40664
gcagagacacgcagaccagctgaggaggacaaagataaggtggcattcacccccaggctc c.*60
. . . . . . g.40724
tgactttcagcatcatgcaggggcttatctgtctggaggcagttacctcataataaacta c.*120
. . . . . . g.40784
taaaatatagtcatcttgggaatgggatttggcataaatgttgttggctcccttctgtcc c.*180
. . . . . . g.40844
actatgtccttggtgtacaatgactttgatctcagccatgacacaacaagaaaaccctcc c.*240
. . . . . . g.40904
ctgttgagctcctggctggactgtgcgttgttcgcagagcagaatggggaggaaacagtg c.*300
. . . . . . g.40964
ttggcagcttaactgatgtgtgtggttggagtctcttccatggcaaagggacaccacagg c.*360
. . . . . . g.41024
gtagtgaacattcaggaactgaggggcatatggcctgatcacacagttctaagcttttca c.*420
. . . . . . g.41084
aaacttcaggttatcagagaccttcctgtgggcctctcttgctggctaagaaccggttta c.*480
. . . . . . g.41144
ggggagtagttctccctggatgagtgcttacagtttctgtggctcagttaccagcagtgg c.*540
. . . . . . g.41204
ggttgagacctgggtcgatgctctttacaggcctgcccagagatgggaataaacagggat c.*600
. . . . . . g.41264
ccacagcgtgactatgtgtttgtcattttccttttatttccttgggaatcgaaaggtgtc c.*660
. . . . . . g.41324
ccagtacatttccctgcacttacagaggtgcatgactaaatacattgtccctcgatgccc c.*720
. . . . . . g.41384
ctgaagatcacggaggcagtcagccaattgcctggcaggtggtagatgttattttcaggg c.*780
. . . . . . g.41444
ttgccgctgagtgtgcaggatgtgctgacaccatccagacaaagactcggtatgtgccca c.*840
. . . . . . g.41504
gacaggtgatggagtcatgcttttgctcagaatgacaaggtaaaggaaaaacatctgagg c.*900
. . . . . . g.41564
tatgttgtaggcctgttctgacagcaaaatgacaaatccagccagcaaaaataaagtgtg c.*960
. . . . . . g.41624
gagaaagatttggagttaattacagtcatttcacagaaggcactgccttcgtctgctgca c.*1020
. . . . . . g.41684
tttgctcttgatgtgataagctcttcgtggctcagctggagatcctttaggcctggagag c.*1080
. . . . . . g.41744
ttgctcctctctccgtggaaacaggacagtctttatacgcagaagtccgctgcagctcga c.*1140
. . . . . . g.41804
tacgtcaggctgagagctagaaccagtagattgcctcctgtcatagacttttgtaatgat c.*1200
. . . . . . g.41864
gcaaacctttgctgatttctaacagtgattatgtagtggctgccctgcatcttctctgtg c.*1260
. . . . . . g.41924
tacagaagggtccctagcatagagtctgcctggaatgatgtcctgggcagttcttccttg c.*1320
. . . . . . g.41984
aggtcagcagctgttccacgttgaatgcatctgattagtggggctgcccaggaaggagtt c.*1380
. . . . . . g.42044
cagaatcagaaggtaaaaagggcatacccttgcctatagcaactctgctcttaggggttt c.*1440
. . . . . . g.42104
atctcaaggagatggctacacaagtgtgaaaggatggttgcacaaggtgttcattgctgt c.*1500
. . . . . . g.42164
ataatctagaattctatattggggaaaatacctatagggaaaaagttaattacggttctt c.*1560
. . . . . . g.42224
gggcacaatgaaatactatgcagctatgaaaaaaatgatgaaagcagacagacagtgttg c.*1620
. . . . . . g.42284
ccatggcacactgtccctagtagatttagtgggaagtagatagagttatagatctgtttc c.*1680
. . . . . . g.42344
tatagtataacaccattatctacagctccctgtgtgtatgtatatatccgtagagagagt c.*1740
. . . . . . g.42404
gtatatttctgcatggaggtctttataaatgtagcacatgtacatatatatatatataca c.*1800
. . . . . . g.42464
cacacacagtcgaccactcccttctcctggaagtactttccgcgtttggctttcaggaca c.*1860
. . . . . . g.42524
ccaagctctctggttgctccttctcaggttcctttgttcagtgctctgcctccctgagga c.*1920
. . . . . . g.42584
ctcagtcccagacctcttttctatctggcttgctcactggggtgtctccagcagccacat c.*1980
. . . . . . g.42644
ggattataccatctacatgctgtctaacacctcagtttaaacccagaatgggcctcttcc c.*2040
. . . . . . g.42704
ctgaactgcagacccctatattcagtttgctactgacatctccacttaggtctctaatgg c.*2100
. . . . . . g.42764
acatctcagatttcacaggcccaaagccaggctcccaattactcctgaccccaggcttgc c.*2160
. . . . . . g.42824
tcctgatagtgacatgaggcagccaaatgcctaggcagagaggggagggtcccaaatgaa c.*2220
. . . . . . g.42884
accccacgttcaagcaaagatcagcctgaaggctaaaagaccagattgctggtcctggat c.*2280
. . . . . . g.42944
gaaacccaccacgcagagtgggaacttctgttcctgtttgcccaccctttcccaattgtt c.*2340
. . . . . . g.43004
ctttctgaataacgccttaaccaatcgaatgttgccttttccagtaatacctacagcctg c.*2400
. . . . . . g.43064
cccctccccccattctgagcccataaaaagacccagactcccccatattaaggggacttt c.*2460
. . . . . . g.43124
cctgcctttgggtagggggaccacccccacgtctcctctctgttgaaaactgtttcatca c.*2520
. . . . . . g.43184
ctcaataaaactcccagctttgctcactcttccactgtcagcacattctcattcttcttt c.*2580
. . . . . . g.43244
ggtgctgggcaagaactcaaccagtgtggaagccatacttggcccaggcgggtgaagtgg c.*2640
. . . . . . g.43304
gcgggccgtctcctgcagcaggtagcatggtcaagcgaggcccaggtgggccgtcaccag c.*2700
. . . . . . g.43364
ccagaggtccctggcttgcaaagtgaccgagaaaaaaatcctgtgccactcctttggaaa c.*2760
. . . . . . g.43424
atgtccctgattcaggaagaggtagctccatccagttgctcaaaccaaatccattggctt c.*2820
. . . . . . g.43484
ctttctttctatcatacctcacatccaatctgtctgcaagtcttttggctctaccttcag c.*2880
. . . . . . g.43544
aatatctccagaatcttaactgcttcaccctcctccccggcctcctcagtcctctctgct c.*2940
. . . . . . g.43604
tccgccctggcccctcttgggctgttcacagcacagcagctgttgccaccctgttaatgc c.*3000
. . . . . . g.43664
tcccactctcctacagccttcggtcttgccccaggtaggagcctgaggctgcacagaggt c.*3060
. . . . . . g.43724
cagcacggccccgcttaccctgccctcccagcccagccgcacgggccttgcacacatgcc c.*3120
. . . . . . g.43784
tcggcatattcctgccttagggctggtgctcctgctatttcctcttcccaggtaaccatg c.*3180
. . . . . . g.43844
tgaagtgcctccctctgccctctttccagcctttacttgagtgtcaccttctcagtgagg c.*3240
. . . . . . g.43904
cctgccctcattcctctttcgctgtttgcaacccatctcctgtcccccttcccagaactc c.*3300
. . . . . . g.43964
cctttcctacttcgtttttcttcacagtacttgatactgcctaacacactccatggtttc c.*3360
. . . . . . g.44024
ttacttgccctgtttattattttcccccaatagacagaatgttccatgatggcagaattc c.*3420
. . . . . . g.44084
tctgttttgtttccttccatgtccccagcacctagaacagtgcctgacgcatctcctaag c.*3480
. . . . . . g.44144
caatacgaccaataagtatgtgtctggctgccttccggctgccagtgtctgcctctttcc c.*3540
. . . . . . g.44204
taggggcagtggttgcgggggtgctttctcacatgtcttagtaggctgtgcaggctggaa c.*3600
. . . . . . g.44264
gtgctcagaagtcacacccccagggagcagcctcagccaacagcaccttggctgtaaatg c.*3660
. . . . . . g.44324
ccccagctccctcgccctcaggtaagcattgctgaggcacacgttccatactcttttcca c.*3720
. . . . . . g.44384
cagttcctccgtgggactgagcaccacccagccacccacaggagcagctaacctgataac c.*3780
. . . . . . g.44444
caccagcctcaccctccctgccttacttccccgctcccctttaccacatgctgacctccc c.*3840
. . . . . . g.44504
agatgcatttcttgctttccggtctctgtctcaggattggctcctggatgaacacaaact c.*3900
. . . . . . g.44564
aacactatgttcacaaatatatttgggaaatgctggatgaataattatacacatcagaca c.*3960
. . . . . . g.44624
gattactagaaattctcaccaaagggatgcacatgttacctctgcatggtgagatctcag c.*4020
. . . . . . g.44684
gtgctttttaccccacatagctatcctttggcatttttataattagcaagtgctcactct c.*4080
. . . . . . g.44744
tccactgtcagtacattctcattcttcttgggcgctggacaagaattcaaccggtgtgta c.*4140
. . . . . . g.44804
agccagactcggcccgggcagtctcaaactcctgactccttatataatttctacaaaaat c.*4200
. . . . . . g.44864
tataaagctatttcccactccccaccccacattcatgtaacctgaagcatgagtaaacca c.*4260
. . . . . . g.44924
agaatgaggtaggcctctgtcttctaagcaacatcagaactctaagaacatgagggactc c.*4320
. . . . . . g.44984
ttagaaaactctctggagctaaccacagctgggtcactgctcatgtactgaagaccagcc c.*4380
. . . . . . g.45044
agagggttcccctgaaaaggagggaaactgagcaaacattctccagttctcttagtgtgc c.*4440
. . . . . . g.45104
acatgtttcaggaggtgtgaaccccacatgtagcttgtgtaggcaagaagacaaatagtg c.*4500
. . . . . . g.45164
ctactgtctggtcaaggatttgtttgaagagccatgattatgcccatatggtaagccacc c.*4560
. . . . . . g.45224
agtgctccccatccctgtaagacacttctttctcattattttctcctctgatggtgtgcc c.*4620
. . . . . . g.45284
aggatgctggccaagagaagccaagtggaaagaaggctgttcagtgacaaggaacctaag c.*4680
. . . . . . g.45344
acttagtgccaaggactgaaaccaagtaaacttgtaattttccatgatggaaacatctac c.*4740
. . . . . . g.45404
actttctcattagtggcctctacagcagttgccccaaagaagcgtctcattgttttttta c.*4800
. . . . . . g.45464
ctacatttatgtgaagcatacaggcaaactcagaaagactgtgataaggctcgccagaga c.*4860
. . . . . . g.45524
tgcctgcacaggtgctgggggaaaagcaggaccatcctgaagggagatggtgtctgtgga c.*4920
. . . . . . g.45584
caaagaactctgcagtggttcttatttgcatgatttctgctggtggaggctgtaaatgtg c.*4980
. . . . . . g.45644
agctcaaactcccacataagtgagttttcattgtaatccagaatgtttttaaatcaccct c.*5040
. . . . . . g.45704
acttctattgaacttgcactatcatctgttaacctctactgtatttattaaataaacctg c.*5100
. . g.45730
aataggtaaatcacagtacagcaaaa c.*5126
(downstream sequence)
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